Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures.

ABSTRACT:

Introduction

Classical-like Ehlers-Danlos syndrome type 1 (clEDS1) is a very rare form of Ehlers-Danlos syndrome caused by tenascin-X deficiency, with only 56 individuals reported in medical literature. Tenascin-X is an extracellular matrix protein needed for collagen stability. Previous publications propose that individuals with clEDS1 might be at risk of gastrointestinal (GI) tract perforations and/or tracheal ruptures. The aim of this study was to characterize complications resulting from perforations of the GI tract and/or tracheal rupture in an international case series of individuals with clEDS1 due to disease-related tissue fragility.

Methods

This case series includes individuals with confirmed clEDS1 and GI perforations and/or tracheal ruptures from participating cen

SUBMITTER: van Gurp JE 

PROVIDER: S-EPMC11932583 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature